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Gene: Chrna4 MGI:87888

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 4
Synonyms:
a4 nicotinic receptor,  alpha4 nAChR,  alpha4-nAChR,  Acra4,  Acra-4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrna4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrna4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Depression, EEG with focal spikes, Increased thet... ORPHA:98784

The table below shows human diseases predicted to be associated to Chrna4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Severe Primary Trimethylaminuria
Obsessive-compulsive trait, Emotional lability, Depression, Negative affectivity, Aggressive beha... ORPHA:468726
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Enhancement of the C-reflex, Bilateral tonic-clonic seiz... OMIM:613608
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:615006
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Bilateral tonic-clonic s... OMIM:615127
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Focal-onset seizure, Bilateral ton... OMIM:117100
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly... OMIM:615369
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalized epilep... OMIM:616187
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Fall... ORPHA:2382
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Irritability, Bilateral tonic-clonic seizure, Restlessness, EEG abnormality, Focal impaired aware... OMIM:610003
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Interict... ORPHA:725
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizur... OMIM:615400
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave complexes, Myocl... OMIM:614018
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Aty... OMIM:617113
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:617904
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality OMIM:608636
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, ... ORPHA:208441
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Gait di... ORPHA:98764
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Truncal ataxia, Absence seizure... OMIM:618587
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention defi... OMIM:619191
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, EEG with ir... ORPHA:86909
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic s... ORPHA:140927
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Manganese Poisoning
Irritability, Akinesia, Memory impairment, Depression, Emotional lability, Confusion, Compulsive ... ORPHA:306682
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619707
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Cognitive ... ORPHA:1929
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:613502
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c... OMIM:617765
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Developmental And Epileptic Encephalopathy 42
Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure,... OMIM:617106
Primary Erythromelalgia
Hypothermia ORPHA:90026
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Focal EEG discharges with secondary generalization, Photosensitive myocl... ORPHA:263516
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618534
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Bilateral t... OMIM:607876
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk... OMIM:618944
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Dementia, S... ORPHA:240094
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Transcobalamin Deficiency
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... ORPHA:859
Myeloma, Multiple
Paraproteinemia OMIM:254500
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Childhood Disintegrative Disorder
Abnormal emotion, Seizure, Motor deterioration, Progressive language deterioration, Motor stereot... ORPHA:168782
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, EEG ... ORPHA:36387
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level OMIM:613500
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,... OMIM:615615
Riboflavin Deficiency
Hypothermia OMIM:615026
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizu... OMIM:617166
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300400
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:612692
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with spike-wave complexes... ORPHA:79137
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Impulsivity, Gait ataxia, Cognitive impairm... OMIM:607454
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Perry Syndrome
Inappropriate behavior, Akinesia, Frontotemporal dementia, Depression, Disinhibition, Short stepp... OMIM:168605
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic ... OMIM:618012
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Simple febrile se... ORPHA:1942
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Seizure, Dementia, Mental deterioration, Aggressive behavior OMIM:300894
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM... OMIM:618969
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Immunodeficiency 109 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:620282
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Corticobasal Syndrome
Akinesia, Dementia, Memory impairment, Gait disturbance, Myoclonus, Limb myoclonus ORPHA:454887
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
N-Acetylglutamate Synthase Deficiency
Confusion, Hypothermia, Cognitive impairment OMIM:237310
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Seizure, Shuffling gait, Gait ataxia, Myoclonus, Short stepped shuff... ORPHA:391411
Spinocerebellar Ataxia Type 21
Gait ataxia, Akinesia, Progressive cerebellar ataxia, Cognitive impairment ORPHA:98773
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:620430
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level OMIM:618048
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act... OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphocyte proliferation in r... OMIM:615592
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Seizure, Freezing of gait, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:619911
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Immunodeficiency 10
Increased circulating IgG3 level, Increased circulating IgA level, Decreased circulating IgG leve... OMIM:612783
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:169154
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Kufor-Rakeb Syndrome
Akinesia, Dementia, Seizure, Gait disturbance, Ataxia, Dysphagia, Myoclonus, Aggressive behavior OMIM:606693
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Hereditary Late-Onset Parkinson Disease
Agitation, Akinesia, Depression, Low frustration tolerance, Shuffling gait, Impulsivity, Dysphagi... ORPHA:411602
Postencephalitic Parkinsonism
Akinesia, Depression, Seizure, Dysphagia, Abnormal aggressive, impulsive or violent behavior ORPHA:97349
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449400
Kimura Disease
Increased circulating IgE level ORPHA:482
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:614069
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:603909
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 112
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:620449
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased circulating IgG level, ... ORPHA:276
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls, Neuromuscular dysphagia, Impulsivity, Mental deterioration, Soci... ORPHA:240071
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:619774
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607594
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Depression, EEG with focal spikes, Increased thet... ORPHA:98784
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Immunodeficiency 52
Defective T cell proliferation, Decreased circulating antibody level, Decreased circulating IgA l... OMIM:617514
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:618394
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Memory impairment, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Ataxia, Dysphagia, ... ORPHA:247234
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Partial absen... OMIM:620632
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Menkes Disease
Hypothermia OMIM:309400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 43
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... OMIM:241600
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Timothy Syndrome
Hypothermia OMIM:601005
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Seizure, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgG level OMIM:619705
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:301081
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hypsarrhythmia, Hyperactivity, Infantile spasms, Bilateral tonic-clon... ORPHA:447997
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Decreased circulating total IgM, Increased circulating IgE level OMIM:243700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Caffey Disease
Increased circulating antibody level ORPHA:1310
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Parkinson Disease 17
Akinesia OMIM:614203
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Akinesia, Depression, Hyperactivity, Gait disturbance, Phonic tics, A... OMIM:234200
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity ORPHA:277
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Progressive neurologic deterioration OMIM:618329
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Decreased circulating antibody level, Decreased circulating IgG level, Incr... OMIM:308240
Supranuclear Palsy, Progressive, 2
Irritability, Akinesia, Gait imbalance, Falls, Memory impairment, Frontolimbic dementia, Dysphagia OMIM:609454
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased circulating total IgA, Increased circulating antibody ... ORPHA:169160
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased circulating antibody level, Absent specific antibody response OMIM:619846
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal elevation of circulating IgA, Reduced circulating complem... ORPHA:91139
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Mental deterioration, Dementia OMIM:616840
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Congenital Myopathy 9A
Akinesia OMIM:618822
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level OMIM:618752
Sepsis In Premature Infants
Fever, Hypothermia, Temperature instability ORPHA:90051
Dpagt1-Cdg
Emotional blunting, Generalized myoclonic seizure, Akinesia, Epileptic spasm, Inability to walk, ... ORPHA:86309
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Generalized-onset seizure, Choreoathetosis OMIM:618249
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Immunodeficiency 92
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal B cell proliferation, ... OMIM:619652
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Increased circu... OMIM:615559
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, Ataxia, Motor stereotypy, Self-injurious behavior, Generalized to... OMIM:616393
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level OMIM:620603
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci... ORPHA:331206
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr... ORPHA:3261
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia, Temperature instability, Dementia, Cognitive impairment ORPHA:99027
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:615758
Supranuclear Palsy, Progressive, 1
Irritability, Akinesia, Gait imbalance, Falls, Memory impairment, Frontolimbic dementia, Dysphagia OMIM:601104
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level ORPHA:397596
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Memory impairment, Delirium, Dementia, Mental deterioration ORPHA:79282
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:612782
Pgm3-Cdg
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgA level... ORPHA:443811
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... ORPHA:329918
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Cognitive impairment ORPHA:488632
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Aceruloplasminemia
Limb ataxia, Akinesia, Memory impairment, Gait ataxia, Cognitive impairment, Ataxia ORPHA:48818
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia ORPHA:20
Choreoacanthocytosis
Hair-pulling, Socially inappropriate behavior, Hyperactivity, Head-banging, Dysphagia, Motor tics... ORPHA:2388
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Hypothermia ORPHA:90674
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level OMIM:616005
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Ethylene Glycol Poisoning
Confusion, Hypothermia ORPHA:31826
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia OMIM:225790
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Seizure, Akinesia, Generalized tonic seizure OMIM:619147
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Delirium ORPHA:94093
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:436159
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Gaucher Disease, Perinatal Lethal
Seizure, Akinesia, Dysphagia, Progressive neurologic deterioration OMIM:608013
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability OMIM:608643
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Short attention span ORPHA:17
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Tick-Borne Encephalitis
Increased circulating IgG level, Fatigable weakness of respiratory muscles, Increased circulating... ORPHA:297
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Alexander Disease
Hypothermia ORPHA:58
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:90362
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619802
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia ORPHA:255210
Congenital Myopathy 12
Akinesia OMIM:612540
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:620040
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Leishmaniasis
Increased circulating antibody level ORPHA:507
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen... ORPHA:2298
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci... ORPHA:449395
Tularemia
Increased circulating antibody level ORPHA:3392
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... OMIM:606367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Impaired neutrophil chemotaxis, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... ORPHA:35078
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300755
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level OMIM:606056
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614700
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:607143
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased circulating antibody level, Decreased specific antibod... ORPHA:221139
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:79330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Absent specific antibody response, Decreased circulating total I... OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Broad-based gait, Emotional l... OMIM:620330
Menkes Disease
Hypothermia ORPHA:565
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Marburg Hemorrhagic Fever
Fever, Confusion, Hypothermia ORPHA:99826
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Pneumocystosis
Increased circulating antibody level ORPHA:723
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:612301
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a... OMIM:300972
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Occipital Horn Syndrome
Hypothermia ORPHA:198
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Recurrent fever, Hypothermia, Short attention span ORPHA:642
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level OMIM:301078
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia ORPHA:293987
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 level ORPHA:79078
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Lassa Fever
Increased circulating IgM level ORPHA:99824
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Aspergillosis
Increased circulating IgE level ORPHA:1163
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... ORPHA:183675
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:210900
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating total IgM, Decreased circulating antibody... ORPHA:90363
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
African Trypanosomiasis
Irritability, Akinesia, Difficulty walking, Seizure, Gait disturbance, Delirium, Choreoathetosis,... ORPHA:3385
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgG2 leve... OMIM:208900
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... ORPHA:79329
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level ORPHA:420741
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Sarcoidosis
Fever, Hypothermia ORPHA:797
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Scleromyxedema
Paraproteinemia ORPHA:167635
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia ORPHA:438213
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... OMIM:301000
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:125
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353281
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Impaired neutrophil chemotaxis, Decreased circulating... ORPHA:3132
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased circula... OMIM:242840
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:620005
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Autoinflammatory Disease, Systemic, With Vasculitis
Decreased circulating total IgM, Decreased circulating IgA level, Increased circulating interleuk... OMIM:620376
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Hyper-Igd Syndrome
Increased circulating IgA level, Increased circulating IgD level OMIM:260920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Monosomy 22Q13.3
Hyperactivity, Seizure, Bruxism, Hair-pulling ORPHA:48652
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG level ORPHA:505248
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Immunodeficiency 17
Chronic decreased circulating IgG2 OMIM:615607
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Q Fever
Cryoglobulinemia, Increased circulating antibody level ORPHA:781
Trigeminal Neuralgia
Allodynia ORPHA:221091
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353277
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Abnormal... ORPHA:48435
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Trichinellosis
Increased circulating IgE level ORPHA:863
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM... OMIM:619381
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Pudendal Neuralgia
Allodynia ORPHA:60039
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Increased circulating antibody level, Decrease... ORPHA:289390
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Spinal Cord Injury
Allodynia ORPHA:90058
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Lysinuric Protein Intolerance
Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir... ORPHA:470
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Gaucher Disease
Polyclonal elevation of IgM, Increased circulating antibody level ORPHA:355
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration ORPHA:99829
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrna4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrna4.

No publications found that use IMPC mice or data for Chrna4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chrna4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chrna4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chrna4tm29686(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chrna4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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